Human Gene ABCG4 (ENST00000615496.4) Description and Page Index
  Description: Homo sapiens ATP binding cassette subfamily G member 4 (ABCG4), transcript variant 2, mRNA. (from RefSeq NM_001142505)
RefSeq Summary (NM_001142505): The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017].
Gencode Transcript: ENST00000615496.4
Gencode Gene: ENSG00000172350.10
Transcript (Including UTRs)
   Position: hg38 chr11:119,149,513-119,161,436 Size: 11,924 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr11:119,149,966-119,161,106 Size: 11,141 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsCTDMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:119,149,513-119,161,436)mRNA (may differ from genome)Protein (646 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=ATP-binding cassette sub-family G member 4;
FUNCTION: May be involved in macrophage lipid homeostasis.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable).
SIMILARITY: Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
SIMILARITY: Contains 1 ABC transmembrane type-2 domain.
SIMILARITY: Contains 1 ABC transporter domain.
WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="";

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -84.00188-0.447 Picture PostScript Text
3' UTR -130.50330-0.395 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR013525 - ABC_2_trans
IPR003439 - ABC_transporter-like
IPR017871 - ABC_transporter_CS
IPR020064 - ABC_transptr_G1-like

Pfam Domains:
PF01061 - ABC-2 type transporter
PF00005 - ABC transporter

ModBase Predicted Comparative 3D Structure on Q9H172
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0017127 cholesterol transporter activity
GO:0034041 sterol-transporting ATPase activity
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0033344 cholesterol efflux
GO:0055085 transmembrane transport
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  BC041091 - Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4, mRNA (cDNA clone MGC:46042 IMAGE:5763981), complete cds.
AK290035 - Homo sapiens cDNA FLJ76004 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), mRNA.
AK289830 - Homo sapiens cDNA FLJ78577 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), mRNA.
AJ308238 - Homo sapiens ABCG4 gene, exon 1.
AJ308237 - Homo sapiens mRNA for ABC transporter (ABCG4 gene).
AJ300465 - Homo sapiens mRNA for putative white family ATP-binding cassette transporter (ABCG4 gene).
AJ308239 - Homo sapiens ABCG4 gene, exon 2.
AK308673 - Homo sapiens cDNA, FLJ98714.
AJ308240 - Homo sapiens ABCG4 gene, exon 3.
AJ308241 - Homo sapiens ABCG4 gene, exon 4.
AJ308242 - Homo sapiens ABCG4 gene, exon 5.
AJ308243 - Homo sapiens ABCG4 gene, exon 6.
AL137563 - Homo sapiens mRNA; cDNA DKFZp434P1420 (from clone DKFZp434P1420).
AJ308244 - Homo sapiens ABCG4 gene, exon 7.
AJ308245 - Homo sapiens ABCG4 gene, exon 8.
AJ308246 - Homo sapiens ABCG4 gene, exon 9.
AJ308247 - Homo sapiens ABCG4 gene, exon 10.
AJ308248 - Homo sapiens ABCG4 gene, exon 11.
AJ308249 - Homo sapiens ABCG4 gene, exon 12.
DQ583664 - Homo sapiens piRNA piR-50776, complete sequence.
AJ308250 - Homo sapiens ABCG4 gene, exon 13.
AJ308251 - Homo sapiens ABCG4 gene, exon 14.
JD396043 - Sequence 377067 from Patent EP1572962.
JD201601 - Sequence 182625 from Patent EP1572962.
JD383526 - Sequence 364550 from Patent EP1572962.
JD191554 - Sequence 172578 from Patent EP1572962.
JD480657 - Sequence 461681 from Patent EP1572962.
JD467136 - Sequence 448160 from Patent EP1572962.
JD227788 - Sequence 208812 from Patent EP1572962.
JD141488 - Sequence 122512 from Patent EP1572962.
JD464277 - Sequence 445301 from Patent EP1572962.
JD181183 - Sequence 162207 from Patent EP1572962.
JD252981 - Sequence 234005 from Patent EP1572962.
JD566033 - Sequence 547057 from Patent EP1572962.
JD072937 - Sequence 53961 from Patent EP1572962.
JD037969 - Sequence 18993 from Patent EP1572962.
JD060644 - Sequence 41668 from Patent EP1572962.
JD445189 - Sequence 426213 from Patent EP1572962.
JD274805 - Sequence 255829 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa02010 - ABC transporters

Reactome (by CSHL, EBI, and GO)

Protein Q9H172 (Reactome details) participates in the following event(s):

R-HSA-1454928 ABCG4 may mediate cholesterol efflux
R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1B5, ABCG4_HUMAN, NM_001142505, Q9H172, uc031yhl.1, uc031yhl.2, WHITE2
UCSC ID: uc031yhl.2
RefSeq Accession: NM_001142505
Protein: Q9H172 (aka ABCG4_HUMAN or ABG4_HUMAN)
CCDS: CCDS8415.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.